ClinVar Miner

Submissions for variant NM_014053.4(FLVCR1):c.1093-1G>A

dbSNP: rs1057520666
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000434937 SCV000516817 pathogenic not provided 2015-04-24 criteria provided, single submitter clinical testing The c.1903-1G>A has not been reported previously as a pathogenic variant nor as a benignpolymorphism, to our knowledge. This splice site variant destroys the canonical splice acceptor site inintron 4. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that issubject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used forprotein translation. The c.1903-1G>A variant was not observed in approximately 6500 individuals ofEuropean and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not acommon benign variant in these populations. We interpret c.1903-1G>A as a pathogenic variant.

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